Linked Data
ClinVar Variation Id:
12831
dbSNP Id:
rs121918645
ExAC:
14:65234443 C / G
gnomAD v2:
14-65234443-C-G
gnomAD v3:
14-64767725-C-G
gnomAD v4:
14-64767725-C-G
PubMed:
PMID:1975598
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.64767725C>G , CM000676.2:g.64767725C>G | GRCh38 |
| NC_000014.8:g.65234443C>G , CM000676.1:g.65234443C>G | GRCh37 |
| NC_000014.7:g.64304196C>G | NCBI36 |
| NG_016202.1:g.60424G>C | |
| NG_016202.2:g.117168G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000389720.4:c.6157G>C | ENSP00000374370.4:p.Ala2053Pro | |
| ENST00000644917.1:c.6157G>C MANE Select | ENSP00000495909.1:p.Ala2053Pro | |
| ENST00000389720.3:c.6157G>C | ENSP00000374370.3:p.Ala2053Pro | |
| ENST00000389721.9:c.6157G>C | ENSP00000374371.5:p.Ala2053Pro | |
| ENST00000389722.7:c.6157G>C | ENSP00000374372.3:p.Ala2053Pro | |
| ENST00000542694.2:n.489G>C | ||
| ENST00000553938.5:c.2152G>C | ENSP00000451324.1:p.Ala718Pro | |
| ENST00000556626.5:c.6157G>C | ENSP00000451752.1:p.Ala2053Pro | |
| NM_000347.5:c.6157G>C | NP_000338.3:p.Ala2053Pro | |
| NM_001024858.2:c.6157G>C | NP_001020029.1:p.Ala2053Pro | |
| XM_005268023.3:c.6157G>C | XP_005268080.1:p.Ala2053Pro | |
| NM_001024858.3:c.6157G>C | NP_001020029.1:p.Ala2053Pro | |
| NM_001355436.2:c.6157G>C MANE Select | NP_001342365.1:p.Ala2053Pro | |
| NM_001355437.2:c.6157G>C | NP_001342366.1:p.Ala2053Pro | |
| XM_017021612.2:c.6157G>C | XP_016877101.1:p.Ala2053Pro | |
| XM_024449699.1:c.6157G>C | XP_024305467.1:p.Ala2053Pro | |
| NM_001024858.4:c.6157G>C | NP_001020029.1:p.Ala2053Pro |